Dysferlin (DYSF) is a large transmembrane protein and a member of the ferlin family of Ca2+-dependent phospholipid-binding proteins that play a role in membrane vesicle fusion and membrane repair. Insufficient levels of normal dysferlin lead to specific forms of muscular dystrophy (dysferlinopathies) that include Miyoshi myopathy (MM), limb-girdle muscular dystrophy type 2B (LGMD-2B) and distal myopathy with anterior tibial onset (DMAT). These recessively-inherited diseases are characterized by progressive, muscle weakness with typical onset in late teens to early twenties, beginning either in proximal (LGMD-2B) or in distal muscles (MM, DMAT) but eventually affecting broader groups of muscles similarly. Clinical symptoms include muscle degeneration accompanied by substantial elevation serum creatine kinase (CK), indicative of muscle damage, inflammation and abnormal muscle morphology. As with other forms of muscular dystrophy, there is currently no cure for dysferlinopathies, and a need exists for new therapeutic approaches to treat these genetic diseases.